PMID- 18509675
OWN - NLM
STAT- MEDLINE
DCOM- 20090428
LR  - 20211020
IS  - 1432-1076 (Electronic)
IS  - 0340-6199 (Linking)
VI  - 168
IP  - 1
DP  - 2009 Jan
TI  - Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 
      deficiency.
PG  - 87-93
LID - 10.1007/s00431-008-0718-x [doi]
AB  - One of the severe combined immunodeficiencies (SCIDs), which is caused by a 
      genetic defect in the signal transduction pathways involved in T-cell activation, 
      is the ZAP70 deficiency. Mutations in ZAP70 lead to both abnormal thymic 
      development and defective T-cell receptor (TCR) signaling of peripheral T-cells. 
      In contrast to the lymphopenia in most SCID patients, ZAP70-deficient patients 
      have lymphocytosis, despite the selective absence of CD8+ T-cells. The clinical 
      presentation is usually before 2 years of age with typical findings of SCID. 
      Here, we present three new ZAP70-deficient patients who vary in their clinical 
      presentation. One of the ZAP70-deficient patients presented as a classical SCID, 
      the second patient presented as a healthy looking wheezy infant, whereas the 
      third patient came to clinical attention for the eczematous skin lesions 
      simulating atopic dermatitis with eosinophilia and elevated immunoglobulin E 
      (IgE), similar to the Omenn syndrome. This study illustrates that awareness of 
      the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making 
      a fast and accurate diagnosis, which will contribute to the improvement of the 
      adequate treatment of this severe immunodeficiency.
FAU - Turul, Tuba
AU  - Turul T
AD  - Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Dr. 
      Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands.
FAU - Tezcan, Ilhan
AU  - Tezcan I
FAU - Artac, Hasibe
AU  - Artac H
FAU - de Bruin-Versteeg, Sandra
AU  - de Bruin-Versteeg S
FAU - Barendregt, Barbara H
AU  - Barendregt BH
FAU - Reisli, Ismail
AU  - Reisli I
FAU - Sanal, Ozden
AU  - Sanal O
FAU - van Dongen, Jacques J M
AU  - van Dongen JJ
FAU - van der Burg, Mirjam
AU  - van der Burg M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080529
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
RN  - 0 (CD3 Complex)
RN  - 0 (CD4 Antigens)
RN  - 0 (CD8 Antigens)
RN  - 0 (Receptors, Antigen, T-Cell)
RN  - EC 2.7.10.2 (ZAP-70 Protein-Tyrosine Kinase)
RN  - EC 2.7.10.2 (ZAP70 protein, human)
SB  - IM
MH  - CD3 Complex/genetics
MH  - CD4 Antigens/genetics
MH  - CD8 Antigens/genetics
MH  - Failure to Thrive
MH  - Female
MH  - *Genetic Heterogeneity
MH  - Humans
MH  - Infant
MH  - Lymphopenia/diagnosis/epidemiology
MH  - Pedigree
MH  - Point Mutation/genetics
MH  - Receptors, Antigen, T-Cell/genetics
MH  - *Severe Combined Immunodeficiency/diagnosis/genetics/prevention & control
MH  - Signal Transduction/physiology
MH  - ZAP-70 Protein-Tyrosine Kinase/*deficiency/*genetics
EDAT- 2008/05/30 09:00
MHDA- 2009/04/29 09:00
CRDT- 2008/05/30 09:00
PHST- 2007/12/17 00:00 [received]
PHST- 2008/03/10 00:00 [accepted]
PHST- 2008/05/30 09:00 [pubmed]
PHST- 2009/04/29 09:00 [medline]
PHST- 2008/05/30 09:00 [entrez]
AID - 10.1007/s00431-008-0718-x [doi]
PST - ppublish
SO  - Eur J Pediatr. 2009 Jan;168(1):87-93. doi: 10.1007/s00431-008-0718-x. Epub 2008 
      May 29.